Variant report

Variant	rs73201628
Chromosome Location	chr3:191050871-191050872
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:191050623-191051463	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr3:191050472-191051070	PFSK-1	brain:	n/a	n/a
3	EBF1	chr3:191050618-191050885	GM12878	blood:	n/a	n/a
4	WRNIP1	chr3:191050548-191051305	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:191049478..191053328-chr3:191074760..191077632,3	K562	blood:
2	chr3:191049298..191052407-chr3:191074621..191077632,4	K562	blood:
3	chr3:191048783..191051594-chr3:191052862..191055527,3	MCF-7	breast:
4	chr3:191030743..191032266-chr3:191048762..191051723,2	K562	blood:

Variant related genes	Relation type
UTS2B	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11542549	0.89[ASN][1000 genomes]
rs1435062	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1473869	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1520202	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1520203	0.90[ASN][1000 genomes]
rs1609926	0.93[EUR][1000 genomes]
rs16822378	0.93[EUR][1000 genomes]
rs16822382	0.93[EUR][1000 genomes]
rs16866487	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16866504	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16866505	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17753967	0.84[ASN][1000 genomes]
rs17810246	0.84[ASN][1000 genomes]
rs17810282	0.84[ASN][1000 genomes]
rs17838893	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2056333	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364379	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs28715898	0.84[ASN][1000 genomes]
rs3796219	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4677631	0.84[ASN][1000 genomes]
rs4677632	0.84[ASN][1000 genomes]
rs4677725	0.84[ASN][1000 genomes]
rs4677726	0.84[ASN][1000 genomes]
rs4677727	0.84[ASN][1000 genomes]
rs56174842	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57211729	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58141749	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58645265	0.89[ASN][1000 genomes]
rs59709586	0.91[EUR][1000 genomes]
rs61250936	0.88[EUR][1000 genomes]
rs6444541	0.84[ASN][1000 genomes]
rs73185209	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73185210	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73185213	0.89[ASN][1000 genomes]
rs73185226	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73185228	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73185240	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73185255	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73185263	0.93[EUR][1000 genomes]
rs73185284	0.91[EUR][1000 genomes]
rs73185287	0.91[EUR][1000 genomes]
rs73185288	0.91[EUR][1000 genomes]
rs73201627	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73201630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73201631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637196	0.84[ASN][1000 genomes]
rs7642387	0.84[ASN][1000 genomes]
rs7648886	0.84[ASN][1000 genomes]
rs9290986	0.84[ASN][1000 genomes]
rs9823680	0.84[ASN][1000 genomes]
rs9824437	0.84[ASN][1000 genomes]
rs9839751	0.80[ASN][1000 genomes]
rs9843934	0.84[ASN][1000 genomes]
rs9853569	0.84[ASN][1000 genomes]
rs9863255	0.86[ASN][1000 genomes]
rs9876944	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv878101	chr3:190891939-191059322	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv4169	chr3:191036298-191063465	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv980108	chr3:191047936-191051389	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191048800-191051800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:191049000-191058600	Weak transcription	Left Ventricle	heart
3	chr3:191049200-191051000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr3:191049200-191051400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:191049200-191051400	Enhancers	Brain Anterior Caudate	brain
6	chr3:191049200-191051400	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:191049200-191060600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:191049400-191051200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr3:191049400-191051400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:191049400-191051400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:191049400-191051600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:191049400-191051600	Enhancers	Fetal Brain Male	brain
13	chr3:191049400-191052000	Enhancers	Colon Smooth Muscle	Colon
14	chr3:191049400-191052200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:191049400-191052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:191049400-191057600	Enhancers	Primary B cells from peripheral blood	blood
17	chr3:191049600-191051000	Flanking Active TSS	HUVEC	blood vessel
18	chr3:191049600-191051400	Enhancers	Fetal Heart	heart
19	chr3:191049600-191051600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr3:191049600-191052200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:191049800-191051000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr3:191049800-191051000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:191049800-191051000	Flanking Active TSS	NHLF	lung
24	chr3:191049800-191051400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:191049800-191051400	Enhancers	Ovary	ovary
26	chr3:191049800-191051400	Enhancers	NHDF-Ad	bronchial
27	chr3:191049800-191051600	Enhancers	Brain Hippocampus Middle	brain
28	chr3:191049800-191051600	Flanking Active TSS	GM12878-XiMat	blood
29	chr3:191049800-191061600	Weak transcription	HSMMtube	muscle
30	chr3:191050000-191051000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:191050000-191051000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr3:191050000-191051000	Enhancers	HMEC	breast
33	chr3:191050000-191051000	Enhancers	NH-A	brain
34	chr3:191050000-191051200	Enhancers	A549	lung
35	chr3:191050000-191051400	Enhancers	Hela-S3	cervix
36	chr3:191050000-191051800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:191050000-191052400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:191050000-191053200	Enhancers	Primary B cells from cord blood	blood
39	chr3:191050000-191053200	Enhancers	K562	blood
40	chr3:191050000-191055600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:191050000-191056400	Weak transcription	Fetal Intestine Small	intestine
42	chr3:191050000-191057200	Weak transcription	Fetal Lung	lung
43	chr3:191050200-191052000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:191050200-191052200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:191050200-191052200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:191050200-191053400	Enhancers	Liver	Liver
47	chr3:191050200-191054400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:191050200-191054800	Enhancers	HepG2	liver
49	chr3:191050200-191055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:191050200-191060200	Weak transcription	Psoas Muscle	Psoas

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